Published in Blood Cells Mol Dis on September 15, 2003
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem (2004) 4.10
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
The serine protease TMPRSS6 is required to sense iron deficiency. Science (2008) 3.70
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat (2008) 3.53
The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis (2009) 3.44
Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Proc Natl Acad Sci U S A (2006) 3.13
Regulation of hepcidin transcription by interleukin-1 and interleukin-6. Proc Natl Acad Sci U S A (2005) 3.11
Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A (2002) 2.71
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA (2007) 2.51
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem (2008) 2.48
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med (2002) 2.44
The IL-6- and lipopolysaccharide-induced transcription of hepcidin in HFE-, transferrin receptor 2-, and beta 2-microglobulin-deficient hepatocytes. Proc Natl Acad Sci U S A (2004) 2.18
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem (2005) 2.17
High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem (2013) 2.09
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem (2004) 1.99
Screening for hemochromatosis by measuring ferritin levels: a more effective approach. Blood (2007) 1.75
A missense mutation in human fatty acid amide hydrolase associated with problem drug use. Proc Natl Acad Sci U S A (2002) 1.74
Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc (2002) 1.71
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood (2011) 1.68
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol (2005) 1.68
A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem (2010) 1.65
Population-based sample reveals gene-gender interactions in blood pressure in White Americans. Hypertension (2006) 1.64
Regulation of hepcidin and iron-overload disease. Annu Rev Pathol (2009) 1.58
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis (2012) 1.58
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis (2009) 1.54
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 1.51
Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood (2006) 1.47
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem (2005) 1.45
Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis (2005) 1.44
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res (2007) 1.43
Penetrance of hemochromatosis. Blood Cells Mol Dis (2003) 1.43
Natural history of hemochromatosis. Mayo Clin Proc (2004) 1.43
Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood (2005) 1.41
Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement. Isr Med Assoc J (2003) 1.41
Uveitis in Gaucher disease. Am J Ophthalmol (2005) 1.39
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem (2006) 1.38
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6. Br J Haematol (2009) 1.36
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal Chem (2010) 1.34
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis (2006) 1.34
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med (2009) 1.34
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. Clin Chem (2010) 1.33
Different regulatory elements are required for response of hepcidin to interleukin-6 and bone morphogenetic proteins 4 and 9. Br J Haematol (2007) 1.33
Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. Blood Cells Mol Dis (2005) 1.30
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood (2010) 1.30
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). Anal Chem (2010) 1.29
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr (2004) 1.24
The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis (2010) 1.21
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood (2004) 1.20
Reduced endocannabinoid immune modulation by a common cannabinoid 2 (CB2) receptor gene polymorphism: possible risk for autoimmune disorders. J Leukoc Biol (2005) 1.20
A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation. PLoS One (2009) 1.19
Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening. Methods Mol Biol (2007) 1.18
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther (2007) 1.18
The penetrance of hereditary hemochromatosis. Best Pract Res Clin Haematol (2005) 1.16
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. Acta Haematol (2007) 1.16
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. Mol Genet Metab (2005) 1.15
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease. Biologics (2009) 1.14
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab (2012) 1.13
Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis (2002) 1.13
Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes. Bioorg Med Chem Lett (2010) 1.11
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab (2006) 1.11
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood (2007) 1.09
Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. Blood (2008) 1.09
Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis (2005) 1.09
Waiving informed consent in newborn screening research: balancing social value and respect. Am J Med Genet C Semin Med Genet (2008) 1.08
Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes. J Hepatol (2005) 1.08
New directions in the treatment of Gaucher disease. Trends Pharmacol Sci (2004) 1.07
In vivo imaging of hepcidin promoter stimulation by iron and inflammation. Blood Cells Mol Dis (2007) 1.07
An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw (2006) 1.07
Seeking candidate mutations that affect iron homeostasis. Blood Cells Mol Dis (2003) 1.06
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis (2010) 1.05
The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction. Hum Genet (2006) 1.05
Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta (2007) 1.05
Haemoglobin and ferritin concentrations in men and women: cross sectional study. BMJ (2002) 1.04
Structure and function correlation in histone H2A peptide-mediated gene transfer. Proc Natl Acad Sci U S A (2002) 1.04
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis (2007) 1.03
Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med (2005) 1.02
The distal location of the iron responsive region of the hepcidin promoter. Blood (2007) 1.02
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genet Med (2008) 1.01
A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med (2010) 1.01
Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci (2003) 1.00
Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry. Anal Chem (2014) 0.99
Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis (2013) 0.99
Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis (2004) 0.98
Using the International Gaucher Disease Registry data: can we devise a virtuous circle for treated patients? Am J Hematol (2008) 0.98